Department of Chemistry and Biochemistry and.
Department of Chemistry and Biochemistry andHoward Hughes Medical Institute, University of Colorado, Boulder, CO 80303
Proc Natl Acad Sci U S A. 2014 Aug 12;111(32):E3277-86. doi: 10.1073/pnas.1412614111. Epub 2014 Jul 28.
The accurate biogenesis of RNA-protein complexes is a key aspect of eukaryotic cells. Defects in Sm protein complex binding to snRNAs are known to reduce levels of snRNAs, suggesting an unknown quality control system for small nuclear ribonucleoprotein (snRNP) assembly. snRNA quality control may also be relevant in spinal muscular atrophy, which is caused by defects in the survival motor neuron (SMN)1 gene, an assembly factor for loading the Sm complex on snRNAs and, when severely reduced, can lead to reduced levels of snRNAs and splicing defects. To determine how assembly-defective snRNAs are degraded, we first demonstrate that yeast U1 Sm-mutant snRNAs are degraded either by Rrp6- or by Dcp2-dependent decapping/5'-to-3' decay. Knockdown of the decapping enzyme DCP2 in mammalian cells also increases the levels of assembly-defective snRNAs and suppresses some splicing defects seen in SMN-deficient cells. These results identify a conserved mechanism of snRNA quality control, and also suggest a general paradigm wherein the phenotype of an "RNP assembly disease" might be suppressed by inhibition of a competing RNA quality control mechanism.
RNA-蛋白质复合物的准确生物发生是真核细胞的一个关键方面。已知 Sm 蛋白复合物与 snRNA 的结合缺陷会降低 snRNA 的水平,这表明 snRNP 组装存在未知的质量控制系统。snRNA 的质量控制在脊髓性肌萎缩症中也可能相关,这种疾病是由生存运动神经元 (SMN)1 基因的缺陷引起的,SMN1 基因是将 Sm 复合物加载到 snRNA 上的组装因子,当严重减少时,会导致 snRNA 水平降低和剪接缺陷。为了确定组装缺陷的 snRNA 是如何降解的,我们首先证明酵母 U1 Sm 突变 snRNA 可以通过 Rrp6-或 Dcp2 依赖性脱帽/5'-3' 降解。在哺乳动物细胞中敲低脱帽酶 DCP2 也会增加组装缺陷 snRNA 的水平,并抑制 SMN 缺陷细胞中出现的一些剪接缺陷。这些结果确定了 snRNA 质量控制的一种保守机制,也表明了一种普遍的范例,即“RNP 组装疾病”的表型可能通过抑制竞争的 RNA 质量控制机制来抑制。